A constitutional mutation within the retinoblastoma gene detected by PFGE.

doi:10.1111/j.1399-0004.1994.tb03981.x

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Article

A constitutional mutation within the retinoblastoma gene detected by PFGE.

Clinical genetics - 1 Jan 1994

Janson M, Nordenskjöld M

Abstract excerpt

Retinoblastoma may be caused by constitutional mutations in the retinoblastoma gene which segregates as an autosomal dominant inherited predisposition for developing retinoblastoma tumours. Since 75% of these cases are new mutations, there is a need for methods to identify carriers of such germ-l...

Topics

Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 4
DNA Restriction Enzymes
Electrophoresis, Gel, Pulsed-Field
Genes, Retinoblastoma
Genetic Markers
Humans
Mutation
Translocation, Genetic
Tumor Cells, Cultured

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